ASXL1 but Not TET2 Mutations Adversely Impact Overall Survival of Patients Suffering Systemic Mastocytosis with Associated Clonal Hematologic Non-Mast-Cell Diseases
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{"title"=>"ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases", "type"=>"journal", "authors"=>[{"first_name"=>"Gandhi", "last_name"=>"Damaj", "scopus_author_id"=>"21736715900"}, {"first_name"=>"Magalie", "last_name"=>"Joris", "scopus_author_id"=>"56074448400"}, {"first_name"=>"Olivia", "last_name"=>"Chandesris", "scopus_author_id"=>"36070436800"}, {"first_name"=>"Katia", "last_name"=>"Hanssens", "scopus_author_id"=>"24341372900"}, {"first_name"=>"Erinn", "last_name"=>"Soucie", "scopus_author_id"=>"6506516638"}, {"first_name"=>"Danielle", "last_name"=>"Canioni", "scopus_author_id"=>"7004375231"}, {"first_name"=>"Brigitte", "last_name"=>"Kolb", "scopus_author_id"=>"19640372300"}, {"first_name"=>"Isabelle", "last_name"=>"Durieu", "scopus_author_id"=>"15126810700"}, {"first_name"=>"Emanuel", "last_name"=>"Gyan", "scopus_author_id"=>"56074609800"}, {"first_name"=>"Cristina", "last_name"=>"Livideanu", "scopus_author_id"=>"16836348400"}, {"first_name"=>"Stephane", "last_name"=>"Chèze", "scopus_author_id"=>"6701316846"}, {"first_name"=>"Momar", "last_name"=>"Diouf", "scopus_author_id"=>"37003569800"}, {"first_name"=>"Reda", "last_name"=>"Garidi", "scopus_author_id"=>"14522115200"}, {"first_name"=>"Sophie", "last_name"=>"Georgin-Lavialle", "scopus_author_id"=>"6506066424"}, {"first_name"=>"Vahid", "last_name"=>"Asnafi", "scopus_author_id"=>"6602299763"}, {"first_name"=>"Ludovic", "last_name"=>"Lhermitte", "scopus_author_id"=>"24577788100"}, {"first_name"=>"Christian", "last_name"=>"Lavigne", "scopus_author_id"=>"19337689100"}, {"first_name"=>"David", "last_name"=>"Launay", "scopus_author_id"=>"7003913326"}, {"first_name"=>"Michel", "last_name"=>"Arock", "scopus_author_id"=>"7006085600"}, {"first_name"=>"Olivier", "last_name"=>"Lortholary", "scopus_author_id"=>"16180677800"}, {"first_name"=>"Patrice", "last_name"=>"Dubreuil", "scopus_author_id"=>"7007007293"}, {"first_name"=>"Olivier", "last_name"=>"Hermine", "scopus_author_id"=>"34570066300"}], "year"=>2014, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "pui"=>"372645748", "doi"=>"10.1371/journal.pone.0085362", "sgr"=>"84896535727", "scopus"=>"2-s2.0-84896535727", "pmid"=>"24465546"}, "id"=>"ec9fdf5e-d918-325d-b70c-55ee23229ff8", "abstract"=>"Systemic mastocytosis with associated hematologic clonal non-mast cell disease (SM-AHNMD) is a rare and heterogeneous subtype of SM and few studies on this specific entity have been reported. Sixty two patients with Systemic mastocytosis with associated hematologic clonal non-mast cell disease (SM-AHNMD) were presented. Myeloid AHNMD was the most frequent (82%) cases. This subset of patients were older, had more cutaneous lesions, splenomegaly, liver enlargement, ascites; lower bone mineral density and hemoglobin levels and higher tryptase level than lymphoid AHNMD. Defects in KIT, TET2, ASXL1 and CBL were positive in 87%, 27%, 14%, and 11% of cases respectively. The overall survival of patients with SM-AHNMD was 85.2 months. Within the myeloid group, SM-MPN fared better than SM-MDS or SM-AML (p = 0.044,). In univariate analysis, the presence of C-findings, the AHNMD subtypes (SM-MDS/CMML/AML versus SM-MPN/hypereosinophilia) (p = 0.044), Neutropenia (p = 0.015), high monocyte level (p = 0.015) and the presence of ASXL1 mutation had detrimental effects on OS (p = 0.007). In multivariate analysis and penalized Cox model, only the presence of ASXL1 mutation remained an independent prognostic factor that negatively affected OS (p = 0.035). SM-AHNMD is heterogeneous with variable prognosis according to the type of the AHNMD. ASXL1 is mutated in a subset of myeloid AHNMD and adversely impact on OS.", "link"=>"http://www.mendeley.com/research/asxl1-not-tet2-mutations-adversely-impact-overall-survival-patients-suffering-systemic-mastocytosis", "reader_count"=>18, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>1, "Researcher"=>4, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>2, "Student > Master"=>1, "Student > Bachelor"=>2, "Professor"=>3}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>1, "Researcher"=>4, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>2, "Student > Master"=>1, "Student > Bachelor"=>2, "Professor"=>3}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Agricultural and Biological Sciences"=>5, "Medicine and Dentistry"=>11, "Computer Science"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>11}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>5}, "Computer Science"=>{"Computer Science"=>1}, "Unspecified"=>{"Unspecified"=>1}}, "reader_count_by_country"=>{"United States"=>1, "Brazil"=>1}, "group_count"=>1}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1354804"], "description"=>"1<p>C-findings according to WHO classification.</p>2<p>including fatigue, headache, flushes, fever, hypotension, choc, syncope, WHO; world health organization, CM; cutaneous mastocytosis, AHNMD; associated clonal hematologic non-mast cell lineage disease, UP; urticaria pigmentosa, TEMP; telengietasia eruptive macularis persistans, DCM; diffuse cutaneous mastocytosis, BMD; bone mineral density.</p>", "links"=>[], "tags"=>["genetics", "Genetic mutation", "Genetics of disease", "Population biology", "epidemiology", "Genetic epidemiology", "Clinical research design", "hematology", "Hematologic cancers and related disorders", "Myeloproliferative disorders", "oncology", "Cancers and neoplasms", "patients", "myeloid", "lymphoid", "sm-ahnmd"], "article_id"=>907085, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Gandhi Damaj", "Magalie Joris", "Olivia Chandesris", "Katia Hanssens", "Erinn Soucie", "Danielle Canioni", "Brigitte Kolb", "Isabelle Durieu", "Emanuel Gyan", "Cristina Livideanu", "Stephane Chèze", "Momar Diouf", "Reda Garidi", "Sophie Georgin-Lavialle", "Vahid Asnafi", "Ludovic Lhermitte", "Christian Lavigne", "David Launay", "Michel Arock", "Olivier Lortholary", "Patrice Dubreuil", "Olivier Hermine"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0085362.t001", "stats"=>{"downloads"=>1, "page_views"=>29, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Demographic_clinical_and_biological_characteristics_of_patients_with_myeloid_and_lymphoid_SM_AHNMD_patients_at_inclusion_/907085", "title"=>"Demographic, clinical and biological characteristics of patients with myeloid and lymphoid SM-AHNMD patients at inclusion.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-01-21 05:00:52"}
  • {"files"=>["https://ndownloader.figshare.com/files/1354805", "https://ndownloader.figshare.com/files/1354806"], "description"=>"<div><p>Systemic mastocytosis with associated hematologic clonal non-mast cell disease (SM-AHNMD) is a rare and heterogeneous subtype of SM and few studies on this specific entity have been reported. Sixty two patients with Systemic mastocytosis with associated hematologic clonal non-mast cell disease (SM-AHNMD) were presented. Myeloid AHNMD was the most frequent (82%) cases. This subset of patients were older, had more cutaneous lesions, splenomegaly, liver enlargement, ascites; lower bone mineral density and hemoglobin levels and higher tryptase level than lymphoid AHNMD. Defects in <i>KIT</i>, <i>TET2</i>, <i>ASXL1</i> and <i>CBL</i> were positive in 87%, 27%, 14%, and 11% of cases respectively. The overall survival of patients with SM-AHNMD was 85.2 months. Within the myeloid group, SM-MPN fared better than SM-MDS or SM-AML (p = 0.044,). In univariate analysis, the presence of C-findings, the AHNMD subtypes (SM-MDS/CMML/AML <i>versus</i> SM-MPN/hypereosinophilia) (p = 0.044), Neutropenia (p = 0.015), high monocyte level (p = 0.015) and the presence of <i>ASXL1</i> mutation had detrimental effects on OS (p = 0.007). In multivariate analysis and penalized Cox model, only the presence of <i>ASXL1</i> mutation remained an independent prognostic factor that negatively affected OS (p = 0.035). SM-AHNMD is heterogeneous with variable prognosis according to the type of the AHNMD. ASXL1 is mutated in a subset of myeloid AHNMD and adversely impact on OS.</p></div>", "links"=>[], "tags"=>["genetics", "Genetic mutation", "Genetics of disease", "Population biology", "epidemiology", "Genetic epidemiology", "Clinical research design", "hematology", "Hematologic cancers and related disorders", "Myeloproliferative disorders", "oncology", "Cancers and neoplasms", "adversely", "patients", "systemic", "mastocytosis", "clonal", "hematologic", "non-mast-cell", "diseases"], "article_id"=>907086, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Gandhi Damaj", "Magalie Joris", "Olivia Chandesris", "Katia Hanssens", "Erinn Soucie", "Danielle Canioni", "Brigitte Kolb", "Isabelle Durieu", "Emanuel Gyan", "Cristina Livideanu", "Stephane Chèze", "Momar Diouf", "Reda Garidi", "Sophie Georgin-Lavialle", "Vahid Asnafi", "Ludovic Lhermitte", "Christian Lavigne", "David Launay", "Michel Arock", "Olivier Lortholary", "Patrice Dubreuil", "Olivier Hermine"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0085362.s001", "https://dx.doi.org/10.1371/journal.pone.0085362.s002"], "stats"=>{"downloads"=>2, "page_views"=>10, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_ASXL1_but_Not_TET2_Mutations_Adversely_Impact_Overall_Survival_of_Patients_Suffering_Systemic_Mastocytosis_with_Associated_Clonal_Hematologic_Non_Mast_Cell_Diseases/907086", "title"=>"<i>ASXL1</i> but Not <i>TET2 Mutations</i> Adversely Impact Overall Survival of Patients Suffering Systemic Mastocytosis with Associated Clonal Hematologic Non-Mast-Cell Diseases", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2014-01-21 05:00:52"}
  • {"files"=>["https://ndownloader.figshare.com/files/1354803"], "description"=>"<p>Overall Survival according to <i>AXSL1</i> mutations.</p>", "links"=>[], "tags"=>["genetics", "Genetic mutation", "Genetics of disease", "Population biology", "epidemiology", "Genetic epidemiology", "Clinical research design", "hematology", "Hematologic cancers and related disorders", "Myeloproliferative disorders", "oncology", "Cancers and neoplasms"], "article_id"=>907084, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Gandhi Damaj", "Magalie Joris", "Olivia Chandesris", "Katia Hanssens", "Erinn Soucie", "Danielle Canioni", "Brigitte Kolb", "Isabelle Durieu", "Emanuel Gyan", "Cristina Livideanu", "Stephane Chèze", "Momar Diouf", "Reda Garidi", "Sophie Georgin-Lavialle", "Vahid Asnafi", "Ludovic Lhermitte", "Christian Lavigne", "David Launay", "Michel Arock", "Olivier Lortholary", "Patrice Dubreuil", "Olivier Hermine"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0085362.g001", "stats"=>{"downloads"=>1, "page_views"=>48, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Overall_Survival_according_to_AXSL1_mutations_/907084", "title"=>"Overall Survival according to <i>AXSL1</i> mutations.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-01-21 05:00:52"}

PMC Usage Stats | Further Information

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